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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Schwartz-Lelek Syndrome
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Accession:DOID:9007292 term browser browse the term
Synonyms:exact_synonym: craniometadiaphyseal dysplasia;   craniometadiaphyseal dysplasia, wormian bone type;   genetic craniotubular bone dysplasias and hyperostoses
 xref: MESH:C537519;   MIM:269300;   MONDO:0010014;   ORDO:85184


show annotations for term's descendants           Sort by:
Schwartz-Lelek Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      Schwartz-Lelek Syndrome 3
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Skin and Connective Tissue Diseases 7696
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              osteochondrodysplasia 867
                osteosclerosis 59
                  craniometaphyseal dysplasia 3
                    Schwartz-Lelek Syndrome 3
paths to the root